Molecular basis of hereditary fructose intolerance in Italy: Identification of two novel mutations in the aldolase B gene

Journal of Medical Genetics

Volumn 33, Issue 9, 1996, Pages 786-788

  Santamaria, R ^a   Tamasi, S ^a   Del Piano, G ^a   Sebastio, G ^a   Andria, G ^a   Borrone, C ^b   Faldella, G ^c   Izzo, P ^a   Salvatore, F ^a  

^a UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^b G GASLINI INSTITUTE   (Italy)

^c UNIVERSITY OF BOLOGNA   (Italy)

Author keywords

Aldolase B; Gene mutations; Hereditary fructose intolerance

Indexed keywords

ARGININE; FRUCTOSE BISPHOSPHATE ALDOLASE; TRYPTOPHAN;

AMINO ACID SUBSTITUTION; ARTICLE; CLINICAL ARTICLE; CODON; CONTROLLED STUDY; DELETION MUTANT; EXON; FEMALE; GENE MUTATION; HEREDITARY FRUCTOSE INTOLERANCE; HUMAN; HUMAN TISSUE; ITALY; MALE; NUCLEIC ACID BASE SUBSTITUTION; PRIORITY JOURNAL; STOP CODON;

EID: 0029784461     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.33.9.786     Document Type: Article

References (12)

1. Gitzelmann R, Steinmann B, Van den Berghe G. Disorders of fructose metabolism. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic and molecular bases of inherited disease. 7th ed. New York: McGraw-Hill, 1994:905-34.
2. Cross NCP, de Franchis R, Sebastio G, et al. Molecular analysis of aldolase B genes in hereditary fructose intolerance. Lancet 1990;335:306-9.
3. Cross NCP, Stojanov LM, Cox TM. A new aldolase B variant, N334K, is a common cause of hereditary fructose intolerance in Yugoslavia. Nucleic Acids Res 1990;18:1925.
4. Cox TM. Aldolase B and fructose intolerance. FASEB J 1994;8:62-71.
5. Sebastio G, de Franchis R, Strisciuglio P, et al. Aldolase B mutations in Italian families affected by hereditary fructose intolerance. J Med Genet 1991;28:241-3.
6. Santamaria R, Scarano MI, Esposito G, Chiandetti L, Izzo P, Salvatore F. The molecular basis of hereditary fructose intolerance in Italian children. Eur J Clin Chem Clin Biochem 1993;31:675-8.
7. Dazzo C, Tolan DR. Molecular evidence for compound heterozygosity in hereditary fructose intolerance. Am J Hum Genet 1990;46:1194-9.
8. Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988;16:1215.
9. Budowle B, Chakraborty R, Giusti AM, Eisenberg AJ, Allen RC. Analysis of the VNTR locus DIS80 by the PCR followed by high-resolution PAGE. Am J Hum Genet 1991;48:137-44.
10. Gamblin SJ, Davies GJ, Grimes JM, Jackson RM, Littlechild JA, Watson HC. Activity and specificity of human aldolases. J Mol Biol 1991;219:573-6.
11. Ali M, Sebastio G, Cox TM. Identification of a novel mutation (Leu 256→Pro) in the human aldolase B gene associated with hereditary fructose intolerance. Hum Mol Genet 1994;3:203-4.
12. Ali M, Rosien U, Cox TM. DNA diagnosis of fatal fructose intolerance from archival tissue. Q J Med 1993;86:25-30.